Phenylketonuria: Treatment and Support

James Morris Excerpts

Tuesday 26th June 2018 Westminster Hall

[Liz Twist]

My hon. Friend is absolutely right, and of course there are many others working hard in the NSPKU.

PKU is a rare inherited disorder, affecting about one in 10,000 babies. Most people are familiar with the pinprick test that newborn babies are given; that is how the condition is picked up. It is one of a series of tests given. People with PKU are unable to break down the amino acid phenylalanine, which is found in proteins. They must have a diet very restricted in protein to prevent problems. If the condition is not properly controlled, it can lead to severe neurological and brain damage, as well as to behavioural problems. Untreated PKU causes profound, irreversible intellectual disability, seizures and behavioural problems. As the damage is not reversible, early diagnosis and early consistent treatment are vital.

I say that the condition can be treated by diet; that sounds easy, but it is not. Imagine, as a child or young person, trying to cope without all the foods that most children and adults take for granted. When we think of food that is high in protein, we probably think of meat, but that is the straightforward bit. All meats are on the red list, and so is fish. Everyday bread is too high in protein, so people with PKU must have special bread without protein, much of which must be baked at home using a specially prescribed flour.

[James Morris (Halesowen and Rowley Regis) (Con)]

Having learned about the disease and issues connected with it, I think that the hon. Lady is right to argue for better treatment, but I am struck by the peculiar and intense pressures that PKU puts on parents and carers. Does she agree that we should explore ways to support them in coping with those pressures?

[Liz Twist]

I agree. There is incredible strain on parents—and of course on people with the disease, but we must not forget about the parents.